Muskoskeletal manifestations of mild form of mucopolysaccharidosis iva - a clinical case

Introduction Mucopolysaccharidosis IVA (MPS IVA) is a rare inherited metabolic disorder caused by galactosamine-6-sulfate sulfatase (GALNS) enzyme deficiency that leads to progressive lysosomal accumulation of glycosaminoglycans (GAGs). MPS IVA has a variable age of onset and variable severity. Clinical presentation is heterogeneous, and some cases are only mildly affected. Key clinical features include short stature, skeletal dysplasia, dental anomalies, and corneal clouding. It is the milder forms of MPS that are often diagnosed late or misdiagnosed as an inflammatory joint disease.